Deleterious mutations in exon 1 of MECP2 in Rett syndrome.
Eur J Med Genet
; 49(4): 313-22, 2006.
Article
em En
| MEDLINE
| ID: mdl-16829352
ABSTRACT
The MECP2 gene is responsible for 80-85% of typical cases of Rett syndrome with deleterious mutations affecting exons 3 and 4. Recently, an alternate transcript including exon 1 was discovered with a new protein isoform (MeCP2_e1) much more abundant in brain. We screened exon 1 of MECP2 for mutations and for large rearrangements in a panel of 212 typical cases of Rett syndrome and one family case with atypical Rett syndrome. We identified two deleterious mutations (c.48_55dup and c.62+2_62+3del) and four large rearrangements encompassing exon 1 of MECP2. We also identified the c.16_21dup alteration formerly reported as c.3_4insGCCGCC and give additional support to classify this sequence variation as polymorphic. In our large panel of typical Rett, mutations affecting exon 1 of MECP2 represent 1% of the deleterious alleles. This study confirms that mutations in exon 1 of MECP2 are a rare cause of Rett syndrome.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Rett
/
Proteína 2 de Ligação a Metil-CpG
Limite:
Child, preschool
/
Female
/
Humans
Idioma:
En
Revista:
Eur J Med Genet
Ano de publicação:
2006
Tipo de documento:
Article